Publications by authors named "R Touraine"

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Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Antoine Delinière, Chloé Mulatier, David Cheillan, Farha Gheurbi, Marion Buchy, Renaud Touraine

Heart Rhythm· November 2025

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Genotyping methods for Fuchs corneal endothelial dystrophy.
D Onitiu, I Harzallah, H Vaitinadapoule, F Mascarelli, R Touraine

J Fr Ophtalmol· May 2025

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De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.
C Racine, P Callier, R Touraine, A Vitobello, N Hanna

Am J Med Genet A· April 2025

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Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.
Margaux Serey-Gaut, Ralyath Balogoun, Laurence Jonard, Geneviève Lina-Granade, Renaud Touraine

Hum Genet· April 2025

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Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Renaud Touraine

Ann Clin Transl Neurol· September 2024

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